A novel porcine model reproduces human oculocutaneous albinism type II

Oculocutaneous albinism (OCA) represents a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes from the time of birth 1 . OCA type II (OCA2) is one of the most common type of the disorder, and accounts for 30% of cases worldwide 2 . However, no effective treatments or medicines exist for curing this disease currently, thus it is necessary to generate animal models for evaluating novel medicines or developing novel therapeutic interventions for the clinic. Previous studies have reported several mouse models for OCA2. However, in addition to showing some of the clinical manifestations of OCA2, several mutant murine strains are accompanied by other abnormalities, including decreased neonatal viability, increased prenatal lethality, reproductive and neurological disorders, and incidence of cleft palate 3 , 4 . It suggests that mice may not fully recapitulate the OCA phenotype, thus highlighting the need for a more suitable animal model. Here, we created a porcine model of OCA2 to bridge the gap between human clinical cases and rodent animal models, and the porcine model displays overt hypopigmentation in eyes and hair follicles similar to those observed in OCA2 patients and lacked other apparent abnormities.